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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1994-12-8
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pubmed:abstractText |
Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and distally by MAP1B/D5S112 or a 0.7-cM interval (range 0.1-2.1 cM) flanked by D5S435 proximally and MAP1B/D5S112 distally. We present the identification of key recombinants between SMA and the closest flanking DNA-markers in an analysis of Dutch and Italian SMA families. These crossovers may serve as reference points for new markers in this region and may thus be instrumental in a further refined mapping of the SMA gene. Two markers, D5S351 (I105) and D5S357 (Mfd151), could be mapped distally to SMA in the interval SMA-D5S112.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0888-7543
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
22
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pubmed:geneSymbol |
SMA
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
219-22
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7959774-Chromosome Mapping,
pubmed-meshheading:7959774-Chromosomes, Artificial, Yeast,
pubmed-meshheading:7959774-DNA, Satellite,
pubmed-meshheading:7959774-Female,
pubmed-meshheading:7959774-Genes, Recessive,
pubmed-meshheading:7959774-Genetic Markers,
pubmed-meshheading:7959774-Haplotypes,
pubmed-meshheading:7959774-Humans,
pubmed-meshheading:7959774-Male,
pubmed-meshheading:7959774-Muscular Atrophy, Spinal,
pubmed-meshheading:7959774-Pedigree,
pubmed-meshheading:7959774-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7959774-Recombination, Genetic
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pubmed:year |
1994
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pubmed:articleTitle |
Identification of key recombinants in multiplex SMA families.
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pubmed:affiliation |
Department of Medical Genetics, University of Groningen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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